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Supplemental Table 1. CYP21A2 genotypes identified in patients with 21 hydroxylase deficiency Non Classic Adrenal hyperplasia

genotypes % group

V281L/V281L 36.2 C

V281L/P453S 17.0 C

V281L/large deletion 14.9 C

V281L/I172N 8.5 C

V281L/c.*13G>A 8.5 C

V281L/Q318X 6.4 C

P30L/c.*13G>A 4.2 C

V281l/L288F 2.1 C

P30L/large deletion 2.1 C

Classic Adrenal hyperplasia

genotypes % group

large deletion/c.*13G>A 20.4 A

large deletion/I172N 16.3 B

homozygous c.*13G>A 12.2 A

c.*13G>A/Q318X 8.2 A

large deletion/R356W 6.1 O

c.*13G>A/I172N 6.1 B

P30L/N387I 4.1 C

Q318X/del 8bp 4.1 O

Q318X/I172N 4.1 B

homozygous large deletion 2.0 O

c.*13G>A/del 8bp 2.0 A

c.*13G>A/R356W 2.0 A

R356W/del 8bp 2.0 O

large deletion/del8bp 2.0 O

large deletion/Q318X 2.0 O

R342P/P920insT 2.0 B

Q318X/P453S 2.0 C

R342P/R356W 2.0 B

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